ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.679G>A (p.Ala227Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002284152 SCV002573462 uncertain significance Thrombocytopenia, X-linked, with or without dyserythropoietic anemia criteria provided, single submitter clinical testing

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